Emma's Story - Congenital Diaphragmatic Hernia (CDH)

At our 20-week anatomy scan, we watched our little girl, Emma, and her twin brother, Benjamin, move and kick around on the ultrasound monitor. The sonographer asked that we wait in the room for the doctor, which was odd, and I knew it could not be good news. Her doctor came in and told us that Benjamin was perfectly healthy, but Emma’s heart was located farther to the right than it should be, and there appeared to be a mass in the left side of her chest. He diagnosed her with a CCAM and referred us to the pediatric surgeon and NICU case worker at the hospital where we were planning to deliver. While consulting with her surgeon, he felt as though a CCAM was not the true issue so he ordered a fetal MRI, and at 24 weeks pregnant, Emma was diagnosed with LCDH. Her surgeon gave her a 60% chance of survival, and we consulted with a neonatologist at the hospital to prepare for her arrival. Luckily, she was not the first CDHer the hospital has treated, so they were already familiar with what to do. The doctors tried to prepare us as much as possible with what would likely happen once she was born. Given that Emma is a twin, and the delicate nature of her situation, we decided to have a C-section at 38 weeks. At 28 weeks, I went into pre-term labor, but we got to the hospital in enough time that they were able to stop the contractions. At 32 weeks, we found out that Benjamin’s placenta was starting to deteriorate. He had been bigger than her the entire pregnancy, and at 35 weeks, she had become bigger than him. The C-section was re-scheduled to 37 weeks. At 35 weeks and 4 days pregnant, I went in for an OB appointment and left with an emergency C-section scheduled for that afternoon due to pre-eclampsia.

Emma was twin A, so she was delivered first. They showed her to me over the curtain as my doctor handed her to the NICU doctor. She was immediately intubated. Benjamin was born a minute later, and they had him cleaned off and next to me very quickly. By then, Emma was clean and had the breathing support she needed, so they allowed us to take a quick picture with us and both babies. My husband then followed Emma to the NICU while Benjamin stayed with me. I got to see Emma again later that evening, and we were told that she had pulmonary hypertension which was making it difficult to stabilize her. By 7am the next morning, the doctor told us the only other intervention he hadn’t tried was ECMO, but he wasn’t confident that it would help her. He suggested comfort care. Luckily, a different doctor came on shift a few hours later who used to work at a hospital with a CDH ward. He made several changes to her care, and she was “critically stable” just a few hours later. It turns out, the first doctor had over-intubated her so her breathing tube needed to be backed out a little bit. The new doctor put her on an oscillator to take some of the stress off her lungs. They also vacuumed down her intestines to allow room for her lung to continue to develop. The twins have two older step-brothers who were allowed to visit with her briefly after she was “stable”. After that, she made big strides rather quickly.

At 4 days old, Benjamin was discharged with Mommy, and he was able to see his twin sister for the first time since the operating room the day they were born. Emma was transitioned to a traditional ventilator again at 6 days old in preparation for her repair at 7 days old. 75% of her diaphragm was repaired with her own tissue, but she does have a 3x5cm dual-layer bio-mesh patch to finish the repair.

Four days after her repair, her breathing tube was removed, and she was transitioned to a nasal cannula. Mommy got to hold her for the first time when she was 12 days old! By 13 days old, she was weaned off of all but one of her medications. Daddy got to hold her for the first time when she was 14 days old. She had her first bottle at 16 days old. The next day, all oxygen assistance was removed, and she was breathing room air completely on her own! At 18 days old, she was weaned off of all medication. Two days later, Emma got to move to a big girl crib rather than her isolette. After 25 days in the NICU, Emma was transitioned to continuous care where she remained for 12 days while she learned how to bottle feed, and she took her first full bottle the next day. On Thanksgiving Day, Mommy and Emma watched the parade together in Emma’s room. The next day was the twins’ original due date and they turned one month old! At 35 days old, she finally passed her hearing screening and was tolerating her bottle feeds well enough to have her NG tube removed! After 37 long, stressful, emotionally paralyzing, heartbreaking but awe-inspiring days later, our baby girl was discharged and able to come home!!!!

Before coming home, Emma was diagnosed with GERD and put on Ranitidine. She still struggles with it at 23-months-old months old and is now on Omeprazole. She also has muscle separation in her lower abdomen, which has caused a diastasis hernia. Her surgeon is hoping to hold off on surgically repairing it until she is a bit bigger. She has trouble gaining weight at the recommended rate for which she was switched from fortified breastmilk to Elecare with oatmeal as an infant and is now on Pediasure 1.5 with Fiber and a daily appetite stimulant medication. She also has constipation problems that we try to manage through her diet, but she is also on a daily constipation medication. Other than that, she is a happy toddler! We are so proud of her miraculous strength and tenacity. Both she and her brother are truly a blessing.